LOCUS NP_000853 373 aa linear PRI 22-OCT-2008
DEFINITION hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid
delta-isomerase 1 [Homo sapiens].
ACCESSION NP_000853
VERSION NP_000853.1 GI:4504507
DBSOURCE REFSEQ: accession NM_000862.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 373)
AUTHORS Hosgood,H.D. III, Menashe,I., Shen,M., Yeager,M., Yuenger,J.,
Rajaraman,P., He,X., Chatterjee,N., Caporaso,N.E., Zhu,Y.,
Chanock,S.J., Zheng,T. and Lan,Q.
TITLE Pathway-based evaluation of 380 candidate genes and lung cancer
susceptibility suggests the importance of the cell cycle pathway
JOURNAL Carcinogenesis 29 (10), 1938-1943 (2008)
PUBMED 18676680
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (residues 1 to 373)
AUTHORS Trump,D.L.
TITLE Inherited variation in the androgen pathway is associated with the
efficacy of androgen-deprivation therapy in men with prostate
cancer Ross RW, Oh WK, Xie W, Pomerantz M, Nakabayashi M, Sartor O,
Taplin ME, Regan MM, Kantoff PW, Freedman M, Dana-Farber Cancer
Institute, Boston, MA
JOURNAL Urol. Oncol. 26 (5), 563 (2008)
PUBMED 18774477
REMARK GeneRIF: Observational study of gene-disease association, gene-gene
interaction, gene-environment interaction, and pharmacogenomic /
toxicogenomic. (HuGE Navigator)
REFERENCE 3 (residues 1 to 373)
AUTHORS Thomas,J.L., Mack,V.L., Glow,J.A., Moshkelani,D., Terrell,J.R. and
Bucholtz,K.M.
TITLE Structure/function of the inhibition of human 3beta-hydroxysteroid
dehydrogenase type 1 and type 2 by trilostane
JOURNAL J. Steroid Biochem. Mol. Biol. 111 (1-2), 66-73 (2008)
PUBMED 18524572
REMARK GeneRIF: Structure/function of the inhibition of HSD3B1 by
trilostane is reported.
REFERENCE 4 (residues 1 to 373)
AUTHORS Ross,R.W., Oh,W.K., Xie,W., Pomerantz,M., Nakabayashi,M.,
Sartor,O., Taplin,M.E., Regan,M.M., Kantoff,P.W. and Freedman,M.
TITLE Inherited variation in the androgen pathway is associated with the
efficacy of androgen-deprivation therapy in men with prostate
cancer
JOURNAL J. Clin. Oncol. 26 (6), 842-847 (2008)
PUBMED 18281655
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (residues 1 to 373)
AUTHORS Skibola,C.F., Bracci,P.M., Halperin,E., Nieters,A., Hubbard,A.,
Paynter,R.A., Skibola,D.R., Agana,L., Becker,N., Tressler,P.,
Forrest,M.S., Sankararaman,S., Conde,L., Holly,E.A. and Smith,M.T.
TITLE Polymorphisms in the estrogen receptor 1 and vitamin C and matrix
metalloproteinase gene families are associated with susceptibility
to lymphoma
JOURNAL PLoS ONE 3 (7), E2816 (2008)
PUBMED 18636124
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 6 (residues 1 to 373)
AUTHORS Dumont,M., Luu-The,V., Dupont,E., Pelletier,G. and Labrie,F.
TITLE Characterization, expression, and immunohistochemical localization
of 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase in
human skin
JOURNAL J. Invest. Dermatol. 99 (4), 415-421 (1992)
PUBMED 1401999
REFERENCE 7 (residues 1 to 373)
AUTHORS Lachance,Y., Luu-The,V., Labrie,C., Simard,J., Dumont,M., de
Launoit,Y., Guerin,S., Leblanc,G. and Labrie,F.
TITLE Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta
5-delta 4-isomerase gene and its expression in mammalian cells
JOURNAL J. Biol. Chem. 267 (5), 3551 (1992)
PUBMED 1737804
REMARK Correction to:[J Biol Chem. 1990 Nov 25;265(33):20469-75. PMID:
2243100]
REFERENCE 8 (residues 1 to 373)
AUTHORS Nickson,D.A., McBride,M.W., Zeinali,S., Hawes,C.S., Petropoulos,A.,
Mueller,U.W. and Sutcliffe,R.G.
TITLE Molecular cloning and expression of human trophoblast antigen
FDO161G and its identification as 3 beta-hydroxy-5-ene steroid
dehydrogenase
JOURNAL J. Reprod. Fertil. 93 (1), 149-156 (1991)
PUBMED 1920284
REFERENCE 9 (residues 1 to 373)
AUTHORS Rheaume,E., Lachance,Y., Zhao,H.F., Breton,N., Dumont,M., de
Launoit,Y., Trudel,C., Luu-The,V., Simard,J. and Labrie,F.
TITLE Structure and expression of a new complementary DNA encoding the
almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta
4-isomerase in human adrenals and gonads
JOURNAL Mol. Endocrinol. 5 (8), 1147-1157 (1991)
PUBMED 1944309
REFERENCE 10 (residues 1 to 373)
AUTHORS Russell,A.J., Gaffney,D., Gardiner,M.T., Nickson,D.A. and
Sutcliffe,R.G.
TITLE Synonymous polymorphism in the coding sequence of human 3-beta
hydroxysteroid-5-ene dehydrogenase (HSD)
JOURNAL Nucleic Acids Res. 19 (5), 1172 (1991)
PUBMED 1673569
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL544564.3, BC031999.1 and X53321.1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..373
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p13.1"
Protein 1..373
/product="hydroxy-delta-5-steroid dehydrogenase, 3 beta-
and steroid delta-isomerase 1"
/EC_number="1.1.1.145"
/EC_number="5.3.3.1"
/note="hydroxy-delta-5-steroid dehydrogenase, 3 beta-and
steroid delta-isomerase 1"
/calculated_mol_wt=42121
CDS 1..373
/gene="HSD3B1"
/gene_synonym="HSD3B"
/gene_synonym="HSDB3"
/coded_by="NM_000862.2:146..1267"
/db_xref="CCDS:CCDS903.1"
/db_xref="GeneID:3283"
/db_xref="HGNC:5217"
/db_xref="HPRD:04920"
/db_xref="MIM:109715"
ORIGIN
1 mtgwsclvtg aggflgqrii rllvkekelk eirvldkafg pelreefskl qnktkltvle
61 gdildepflk racqdvsvii htaciidvfg vthresimnv nvkgtqllle acvqasvpvf
121 iytssievag pnsykeiiqn gheeeplent wpapyphskk laekavlaan gwnlknggtl
181 ytcalrpmyi ygegsrflsa sinealnnng ilssvgkfst vnpvyvgnva wahilalral
241 qdpkkapsir gqfyyisddt phqsydnlny tlskefglrl dsrwsfplsl mywigfllei
301 vsfllrpiyt yrppfnrhiv tlsnsvftfs ykkaqrdlay kplysweeak qktvewvgsl
361 vdrhketlks ktq
//